Identification of a BRCA2 mutation in a Turkish family with early‐onset breast cancer. Issue 9 (17th July 2018)

• Record Type: Journal Article
• Authors: Celik, Elifnaz; Ermis Tekkus, Kubra; Akcay, Izzet Mehmet; Alkurt Sal, Gizem; Ezberci, Fikret; Dinler Doganay, Gizem; Doganay, Levent
• Is Part Of: Clinical case reports. Volume 6:Issue 9(2018)
• Page Start: 1751
• Page End: 1755
• Publication Date: 2018-07-17
• Subjects: ATM -- BRCA1/2 -- early‐onset breast cancer -- genetics -- multi‐gene panel testing -- oncology; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1625
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: We used a multi‐gene panel testing to identify the germline variants in a mother‐daughter pair with early‐onset breast cancer, and detected one pathogenic protein‐truncating variant in BRCA2 . Our results highlight the importance of genetic testing in identifying the pathogenic mutation running in cancer families. Abstract : We used a multi‐gene panel testing to identify the germline variants in a mother‐daughter pair with early onset breast cancer, and detected one pathogenic protein‐truncating variant in BRCA2 . Our results highlight the importance of genetic testing in identifying the pathogenic mutation running in cancer families.